Browsing by Subject GALNS

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  • Authors: Deilamani, Faravareh Khordadpoor;  Advisor: Akbari, Mohammad Taghi;  Participants: - (2022)

  • Mucopolysaccharidoses IVA is an autosomal recessive lysosomal storage disease resulting in skeletal and cartilage dysplasia. Hematopoietic stem cell transplantation is a good therapeutic option for MPS IV. Here we report the first application of PGD test for MPS IVA and HLA with the purpose of HSCT for the affected son in a family with consanguineous marriage. Haplotype analysis of linked STR markers in GALNS gene and HLA loci as well as variant detection by cycle sequencing were included in our PGD test.